A Case Report of Fetal Split Hand Foot Malformation Syndrome: A Rare Congenital Limb Anomaly

Abstract Fetal split hand foot malformation (SHFM) syndrome is a rare congenital disorder characterized by developmental abnormalities of fingers and/or toes, resulting in a split appearance. SHFM is sporadic and shows mainly autosomal dominant inheritance with variable clinical presentation. Prenatal diagnosis plays a crucial role in the management and in counseling of affected families. In this case report, we present the diagnosis of SHFM through ultrasound imaging and genetic testing in a primigravida, along with post abortal fetal findings. The aim was to highlight the importance of early detection during routine ultrasound and genetic counseling for appropriate understanding and management of this rare limb condition.

Authors

Publication Details

Journal
Journal of Fetal Medicine
Published
2024-08-12
DOI
https://doi.org/10.1055/s-0044-1788809
Primary Topic
Congenital limb and hand anomalies
Type
article
Field-Weighted Citation Impact
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article

A Case Report of Fetal Split Hand Foot Malformation Syndrome: A Rare Congenital Limb Anomaly

Shankar Dey, Prasanna Roy
Journal of Fetal Medicine
Congenital limb and hand anomalies
article

A Case Report of Fetal Split Hand Foot Malformation Syndrome: A Rare Congenital Limb Anomaly

Shankar Dey, Prasanna Roy
article en

Abstract

Abstract Fetal split hand foot malformation (SHFM) syndrome is a rare congenital disorder characterized by developmental abnormalities of fingers and/or toes, resulting in a split appearance. SHFM is sporadic and shows mainly autosomal dominant inheritance with variable clinical presentation. Prenatal diagnosis plays a crucial role in the management and in counseling of affected families. In this case report, we present the diagnosis of SHFM through ultrasound imaging and genetic testing in a primigravida, along with post abortal fetal findings. The aim was to highlight the importance of early detection during routine ultrasound and genetic counseling for appropriate understanding and management of this rare limb condition.

Journal of Fetal MedicineVol. 11(03)
Good health and well-being
Openalex Percentile: Top 89%
Congenital limb and hand anomalies
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